Mégarbané A - Search Results

1

The 50th anniversary of the discovery of trisomy 21: the past, present, and future of research and treatment of Down syndrome.

Mégarbané A, Ravel A, Mircher C, Sturtz F, Grattau Y, Rethoré MO, Delabar JM, Mobley WC. Mégarbané A, et al. Genet Med. 2009 Sep;11(9):611-6. doi: 10.1097/GIM.0b013e3181b2e34c. Genet Med. 2009. PMID: 19636252 Free article. Review.

2

[Amino acids and trisomy 21].

Lejeune J, Rethoré MO, de Blois MC, Peeters M, Naffah J, Megarbane A, Cattaneo F, Mircher C, Rabier D, Parvy P, et al. Lejeune J, et al. Among authors: megarbane a. Ann Genet. 1992;35(1):8-13. Ann Genet. 1992. PMID: 1535189 French.

3

Metabolic anomalies in cri du chat syndrome (5p-) lymphocytes and de novo purine synthesis.

Peeters MA, Rethoré MO, Aris L, Megarbane A, Cattaneo F, Lejeune J. Peeters MA, et al. Among authors: megarbane a. Ann Genet. 1991;34(3-4):219-25. Ann Genet. 1991. PMID: 1809230

4

[Announcement of diagnosis of 21-trisomy and abandonment].

Mégarbane A, Jobert AS, Rethore MO, Lejeune J, Peeters M. Mégarbane A, et al. Arch Pediatr. 1994 Sep;1(9):856-7. Arch Pediatr. 1994. PMID: 7842132 French. No abstract available.

5

Differences in purine metabolism in patients with Down's syndrome.

Peeters MA, Megarbane A, Cattaneo F, Rethore MO, Lejeune J. Peeters MA, et al. Among authors: megarbane a. J Intellect Disabil Res. 1993 Dec;37 ( Pt 6):491-505. doi: 10.1111/j.1365-2788.1993.tb00320.x. J Intellect Disabil Res. 1993. PMID: 8123996

6

High-resolution physical mapping of a 6.7-Mb YAC contig spanning a region critical for the monosomy 21 phenotype in 21q21.3-q22.1.

Orti R, Mégarbane A, Maunoury C, Van Broeckhoven C, Sinet PM, Delabar JM. Orti R, et al. Among authors: megarbane a. Genomics. 1997 Jul 1;43(1):25-33. doi: 10.1006/geno.1997.4765. Genomics. 1997. PMID: 9226369

7

A 56-year-old female patient with facio-oculo-acoustico-renal syndrome (FOAR) syndrome. Report on the natural history and of a novel mutation.

Stora S, Conte M, Chouery E, Richa S, Jalkh N, Gillart AC, Joannis AL, Mégarbané A. Stora S, et al. Among authors: megarbane a. Eur J Med Genet. 2009 Sep-Oct;52(5):341-3. doi: 10.1016/j.ejmg.2009.06.005. Epub 2009 Jul 3. Eur J Med Genet. 2009. PMID: 19577669

8

How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?

Ravel A, Chouery E, Stora S, Jalkh N, Villard L, Temtamy S, Mégarbané A. Ravel A, et al. Among authors: megarbane a. Am J Med Genet A. 2011 Apr;155A(4):880-4. doi: 10.1002/ajmg.a.33879. Epub 2011 Mar 17. Am J Med Genet A. 2011. PMID: 21416592

9

Lack of anti-citrullinated fibrinogen and anti-CCP antibodies in adult patients with Down syndrome.

Berthelot JM, Nogueira L, Mircher C, Megarbane A, Maugars Y, Serre G. Berthelot JM, et al. Among authors: megarbane a. Joint Bone Spine. 2012 Oct;79(5):526-7. doi: 10.1016/j.jbspin.2012.03.002. Epub 2012 May 4. Joint Bone Spine. 2012. PMID: 22560845 No abstract available.

10

Molecular signatures of cardiac defects in Down syndrome lymphoblastoid cell lines suggest altered ciliome and Hedgehog pathways.

Ripoll C, Rivals I, Ait Yahya-Graison E, Dauphinot L, Paly E, Mircher C, Ravel A, Grattau Y, Bléhaut H, Mégarbane A, Dembour G, de Fréminville B, Touraine R, Créau N, Potier MC, Delabar JM. Ripoll C, et al. Among authors: megarbane a. PLoS One. 2012;7(8):e41616. doi: 10.1371/journal.pone.0041616. Epub 2012 Aug 9. PLoS One. 2012. PMID: 22912673 Free PMC article.

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